Version: 8.0.0
Date: Tue Jan 28 2025
Tg(282M13-Ank*G389R)1Kng
MGI:3715537Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Tg(282M13-Ank*G389R)1Kng

Species
Mus musculus
Symbol
Tg(282M13-Ank*G389R)1Kng
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • AnkG389R
  • BAC-AnkG389R
Description
A point mutation was made in the Ank gene contained within Tg(282M13)1Kng converting a glycine to a arginine at amino acid position 389. This mutation is commonly found in craniometaphyseal dysplasia (CMD) patients and has little to no PPi-transport activity in vitro.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
    Source
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